Canonical Allele Identifier: CA372881479

Gene: GLDC

Linked Data

• ClinVar Variation Id: 1489808
• ClinVar RCV Id: RCV002001594
• dbSNP Id: rs1323060528
• MyVariant Identifiers: chr9:g.6556304T>G (hg19) ; chr9:g.6556304T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556304T>G , CM000671.2:g.6556304T>G	GRCh38
NC_000009.11:g.6556304T>G , CM000671.1:g.6556304T>G	GRCh37
NC_000009.10:g.6546304T>G	NCBI36
NG_016397.1:g.94389A>C , LRG_643:g.94389A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2053-2A>C MANE Select	ENSP00000370737.4:n.2053-2A>C
ENST00000638233.1:n.488-2A>C
ENST00000638661.1:c.253-2A>C	ENSP00000491369.1:n.253-2A>C
ENST00000638694.1:n.240-2A>C
ENST00000639318.1:c.253-2A>C	ENSP00000491932.1:n.253-2A>C
ENST00000639364.1:n.1753-2A>C
ENST00000639443.1:n.1621-2A>C
ENST00000639954.1:n.1761-2A>C
ENST00000640505.1:n.292-2A>C
ENST00000321612.6:c.2053-2A>C	ENSP00000370737.3:n.2053-2A>C
NM_000170.2:c.2053-2A>C , LRG_643t1:c.2053-2A>C	NP_000161.2:n.2053-2A>C
NM_000170.3:c.2053-2A>C MANE Select	NP_000161.2:n.2053-2A>C